ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5471_5480+5del

dbSNP: rs1591479665
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377536 SCV001574895 likely pathogenic not provided 2020-06-13 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 39 (c.5471_5480+5del) of the MYO7A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYO7A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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